Positional cloning of autosomal dominant Fanconi Syndrom

Human Genome Research

Investigators

Abstract

We have mapped a gene responsible for renal Fanconi syndrome inherited as an autosomal dominant manner. We are currently testing candidate genes in the linkage region for mutations in a proband from the family. It is hoped that identification of the gene will further our knowledge of the pathophysiology of hreditary renal Fanconi syndrome and renal tutublar disorders in general.